Canonical Allele Identifier: CA343202
Gene: DKC1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154773169G>A , CM000685.2:g.154773169G>A GRCh38
NC_000023.10:g.154001444G>A , CM000685.1:g.154001444G>A GRCh37
NC_000023.9:g.153654638G>A NCBI36
NG_009780.1:g.15414G>A , LRG_55:g.15414G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001363.5:c.1075G>A MANE Select NP_001354.1:p.Asp359Asn
ENST00000369550.10:c.1075G>A MANE Select ENSP00000358563.5:p.Asp359Asn
NM_001142463.2:c.1075G>A NP_001135935.1:p.Asp359Asn
NM_001142463.3:c.1075G>A NP_001135935.1:p.Asp359Asn
NM_001288747.1:c.1075G>A NP_001275676.1:p.Asp359Asn
NM_001288747.2:c.1075G>A NP_001275676.1:p.Asp359Asn
NM_001363.4:c.1075G>A NP_001354.1:p.Asp359Asn
NR_110021.1:n.1776G>A
NR_110021.2:n.1654G>A
NR_110022.1:n.1895G>A
NR_110022.2:n.1773G>A
NR_110023.1:n.1669G>A
NR_110023.2:n.1547G>A
ENST00000369550.9:c.1075G>A ENSP00000358563.5:p.Asp359Asn
ENST00000412124.5:c.333G>A
ENST00000413910.6:c.955G>A ENSP00000400542.2:p.Asp319Asn
ENST00000426673.5:c.435G>A
ENST00000426673.6:c.*458G>A ENSP00000407253.3:n.*458G>A
ENST00000475966.1:n.564G>A
ENST00000481062.1:n.26G>A
ENST00000484317.6:n.860G>A
ENST00000620277.4:c.1075G>A ENSP00000478387.1:p.Asp359Asn
ENST00000696575.1:c.1075G>A ENSP00000512730.1:p.Asp359Asn
ENST00000696577.1:c.1075G>A ENSP00000512731.1:p.Asp359Asn
ENST00000696578.1:c.*27G>A ENSP00000512732.1:n.*27G>A
ENST00000696579.1:n.1177G>A
ENST00000696580.1:c.988G>A ENSP00000512733.1:p.Asp330Asn
ENST00000696581.1:c.*1049G>A ENSP00000512734.1:n.*1049G>A
ENST00000696582.1:c.*281G>A ENSP00000512735.1:n.*281G>A
ENST00000696583.1:c.1036G>A ENSP00000512736.1:p.Asp346Asn
ENST00000696584.1:n.1599G>A
ENST00000696585.1:n.1718G>A
ENST00000696586.1:n.1492G>A
ENST00000696587.1:c.955G>A ENSP00000512737.1:p.Asp319Asn
ENST00000696588.1:c.466G>A ENSP00000513251.1:p.Asp156Asn
ENST00000696589.1:n.850G>A
ENST00000696590.1:n.699G>A
ENST00000696591.1:n.424G>A
ENST00000696592.1:n.1954G>A
ENST00000696627.1:c.1075G>A ENSP00000512764.1:p.Asp359Asn
ENST00000696628.1:c.1075G>A ENSP00000512765.1:p.Asp359Asn